ArticleClinical genetics2014
Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?
Article in Clinical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
17 citing papers in PubMed, 36 citations in OpenAlex.
- Phenotypic spectrum of 19p13.3 microdeletion: a fatal infant case with severe cardiomegaly and gastrointestinal manifestations.Molecular biology reports · 2026Article
- [Cardiofaciocutaneous syndrome caused by microdeletion of chromosome 19p13.3: a case report and literature review].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- Hyperactivation of MEK1 in cortical glutamatergic neurons results in projection axon deficits and aberrant motor learning.Disease models & mechanisms · 2024Article
- Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene.Italian journal of pediatrics · 2022Article
- Identification of key genes and signaling pathways related to Hetian sheep wool density by RNA-seq technology.PloS one · 2022Article
- ERK signalling: a master regulator of cell behaviour, life and fate.Nature reviews. Molecular cell biology · 2020Review
- De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions.Journal of human genetics · 2020Article
- RAS GTPase-dependent pathways in developmental diseases: old guys, new lads, and current challenges.Current opinion in cell biology · 2018Review
- Article
- Expansion of the RASopathies.Current genetic medicine reports · 2016Article
- Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities.Orphanet journal of rare diseases · 2016Article
- Aortic dilation, genetic testing, and associated diagnoses.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Layer specific and general requirements for ERK/MAPK signaling in the developing neocortex.eLife · 2016Article
- PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.European journal of human genetics : EJHG · 2015Article
- Muscle-derived extracellular signal-regulated kinases 1 and 2 are required for the maintenance of adult myofibers and their neuromuscular junctions.Molecular and cellular biology · 2015Article
- Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11.Molecular cytogenetics · 2014Article
- 1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.Genetics and molecular biologyArticle
Corrections and comments
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Authors and funding
13 authors at 9 institutions in 4 countries.
Funding
Abstract
RASopathies are a class of genetic syndromes caused by germline mutations in genes encoding Ras/mitogen-activated protein kinase (Ras/MAPK) pathway components. Cardio-facio-cutaneous (CFC) syndrome is a RASopathy characterized by distinctive craniofacial features, skin and hair abnormalities, and congenital heart defects caused by activating mutations of BRAF, MEK1, MEK2, and KRAS. We define the phenotype of seven patients with de novo deletions of chromosome 19p13.3 including MEK2; they present with a distinct phenotype but have overlapping features with CFC syndrome. Phenotypic features of all seven patients include tall forehead, thick nasal tip, underdeveloped cheekbones, long midface, sinuous upper vermilion border, tall chin, angular jaw, and facial asymmetry. Patients also have developmental delay, hypotonia, heart abnormalities, failure to thrive, obstructive sleep apnea, gastroesophageal reflux and integument abnormalities. Analysis of epidermal growth factor-stimulated fibroblasts revealed that P-MEK1/2 was ∼50% less abundant in cells carrying the MEK2 deletion compared to the control. Significant differences in total MEK2 and Sprouty1 abundance were also observed. Our cohort of seven individuals with MEK2 deletions has overlapping features associated with RASopathies. This is the first report suggesting that, in addition to activating mutations, MEK2 haploinsufficiency can lead to dysregulation of the MAPK pathway.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.